Prenatal detection of fetal hemoglobin E gene from maternal plasma

In order to provide a noninvasive prenatal diagnosis of the hemoglobin E (Hb E) related disorder, we have evaluated the possibility of identifying the fetal βE‐globin gene in maternal plasma. The analysis was performed during 8 to 18 weeks of gestation using DNA extracted from 200 µL of plasma from...

Full description

Saved in:
Bibliographic Details
Published in:Prenatal diagnosis 2003-05, Vol.23 (5), p.393-396
Main Authors: Fucharoen, Goonnapa, Tungwiwat, Warunee, Ratanasiri, Thawalwong, Sanchaisuriya, Kanokwan, Fucharoen, Supan
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Chorionic Villi Sampling
DNA - analysis
DNA Mutational Analysis
DNA Primers - chemistry
Female
fetal DNA
Fetal Hemoglobin - genetics
Fetal Hemoglobin - metabolism
Gynecology. Andrology. Obstetrics
Hemoglobin E - genetics
Hemoglobin E - metabolism
hemoglobin E gene
Humans
Management. Prenatal diagnosis
maternal plasma
Medical sciences
Mutation
Pregnancy - blood
Pregnancy Trimester, First
Pregnancy Trimester, Second
Pregnancy. Fetus. Placenta
prenatal diagnosis
Prenatal Diagnosis - methods
Restriction Mapping
Sex Determination Analysis
Thalassemia - diagnosis
Tropical medicine
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:In order to provide a noninvasive prenatal diagnosis of the hemoglobin E (Hb E) related disorder, we have evaluated the possibility of identifying the fetal βE‐globin gene in maternal plasma. The analysis was performed during 8 to 18 weeks of gestation using DNA extracted from 200 µL of plasma from pregnant women whose husbands carried Hb E. The βE‐globin mutation in maternal plasma was detected by a nested PCR amplification followed by the Mnl I restriction analysis. The result was compared with that of routine analysis of the CVS specimens. Among the five pregnant women examined, the fetal βE‐globin gene was identified in maternal plasma in three of them and the result was completely concordant with the conventional CVS analysis. This simple noninvasive prenatal detection of the fetal βE‐globin gene should prove useful in a prevention and control program of Hb E/β‐thalassemia in countries where the βE‐globin gene is prevalent. Copyright © 2003 John Wiley & Sons, Ltd.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.607